Full text in PMC (nucleotide) for Gene (Select 259232) - PMC

Links from Gene

Items: 1 to 20 of 43

<< First< Prev

Page of 3

Select item 70271951.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Abstract Article PDF–1.2M

Select item 69286272.

Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining

Justyna Totoń-Żurańska, Przemysław Kapusta, Magda Rybak-Krzyszkowska, Katarzyna Lorenc, Julita Machlowska, Anna Skalniak, Erita Filipek, Dorota Pawlik, Paweł P. Wołkow

Int J Mol Sci. 2019 Dec; 20(23): 6006. Published online 2019 Nov 28. doi: 10.3390/ijms20236006

PMCID:: PMC6928627

Abstract Article PDF–1.9M

Select item 68627333.

Genetic variants of VEGFR-1 gene promoter in acute myocardial infarction

Haihua Wang, Shufang Zhang, Na Wang, Jie Zhang, Mingkai Chen, Xiaohui He, Yinghua Cui, Shuchao Pang, Bo Yan

Hum Genomics. 2019; 13: 56. Published online 2019 Nov 19. doi: 10.1186/s40246-019-0243-1

PMCID:: PMC6862733

Abstract Article PDF–1.8M

Select item 68264184.

A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

Maria Valeria Esposito, Giuseppina Minopoli, Luciana Esposito, Valeria D’Argenio, Federica Di Maggio, Emanuele Sasso, Massimiliano D’Aiuto, Nicola Zambrano, Francesco Salvatore

Cancers (Basel) 2019 Oct; 11(10): 1454. Published online 2019 Sep 28. doi: 10.3390/cancers11101454

PMCID:: PMC6826418

Abstract Article PDF–7.8M

Select item 68257785.

The Nudix Hydrolase 15 (NUDT15) Gene Variants among Jordanian Arab Population

Yazun Bashir Jarrar, Maria Ghishan

Asian Pac J Cancer Prev. 2019; 20(3): 801–808. doi: 10.31557/APJCP.2019.20.3.801

PMCID:: PMC6825778

Abstract Article PDF–467K

Select item 68194366.

Bioinformatic Identification of miR-622 Key Target Genes and Experimental Validation of the miR-622-RNF8 Axis in Breast Cancer

Chuanyang Liu, Lu Min, Jingyu Kuang, Chushu Zhu, Xin-Yuan Qiu, Lingyun Zhu

Front Oncol. 2019; 9: 1114. Published online 2019 Oct 23. doi: 10.3389/fonc.2019.01114

PMCID:: PMC6819436

Abstract Article PDF–2.6M

Select item 66716797.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli-Avella, Beate Albrecht, Aida I. Al Aqeel, Amal Alhashem, Nouriya Al-Sannaa, Maissa Bah, Katharina Bröhl, Christel Depienne, Nathalie Dorison, Diane Doummar, Nadja Ehmke, Hasnaa M. Elbendary, Svetlana Gorokhova, Delphine Héron, Denise Horn, Kiely James, Boris Keren, Alma Kuechler, Samira Ismail, Mahmoud Y. Issa, Isabelle Marey, Michèle Mayer, Jennifer McEvoy-Venneri, Andre Megarbane, Cyril Mignot, Sarar Mohamed, Caroline Nava, Nicole Philip, Cecile Ravix, Arndt Rolfs, Abdelrahim Abdrabou Sadek, Lara Segebrecht, Valentina Stanley, Camille Trautman, Stephanie Valence, Laurent Villard, Thomas Wieland, Hartmut Engels, Tim M. Strom, Maha S. Zaki, Joseph G. Gleeson, Hermann-Josef Lüdecke, Peter Bauer, Dagmar Wieczorek

Hum Genet. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Hum Genet. 2018 Sep; 137(9): 753–768. Published online 2018 Aug 23. doi: 10.1007/s00439-018-1929-5

PMCID:: PMC6671679

Abstract Article PDF–649K

Select item 66607008.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Abstract Article PDF–980K

Select item 65465569.

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Hui Guo, Michael H. Duyzend, Bradley P. Coe, Carl Baker, Kendra Hoekzema, Jennifer Gerdts, Tychele N. Turner, Michael C. Zody, Jennifer S. Beighley, Shwetha C. Murali, Bradley J. Nelson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Raphael A. Bernier, Evan E. Eichler

Genet Med. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Genet Med. 2019 Jul; 21(7): 1611–1620. Published online 2018 Dec 3. doi: 10.1038/s41436-018-0380-2

PMCID:: PMC6546556

Abstract Article PDF–1.0M

Select item 641254210.

MicroRNA-92a promotes cell proliferation, migration and survival by directly targeting the tumor suppressor gene NF2 in colorectal and lung cancer cells

Krizelle Mae M. Alcantara, Reynaldo L. Garcia

Oncol Rep. 2019 Apr; 41(4): 2103–2116. Published online 2019 Feb 19. doi: 10.3892/or.2019.7020

PMCID:: PMC6412542

Abstract Article PDF–2.4M

Select item 632764111.

Identification of differentially expressed non-coding RNAs and mRNAs involved in Qi stagnation and blood stasis syndrome

Guang Chen, Jialiang Gao, Haoqiang He, Chao Liu, Yongmei Liu, Jun Li, Jie Wang

Exp Ther Med. 2019 Feb; 17(2): 1206–1223. Published online 2018 Dec 7. doi: 10.3892/etm.2018.7068

PMCID:: PMC6327641

Abstract Article PDF–3.7M

Select item 623064412.

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Satoko Abe, Shin‐ya Nishio, Yoh Yokota, Hideaki Moteki, Kozo Kumakawa, Shin‐ichi Usami

Clin Case Rep. 2018 Nov; 6(11): 2111–2116. Published online 2018 Sep 21. doi: 10.1002/ccr3.1800

PMCID:: PMC6230644

Abstract Article PDF–443K

Select item 617617713.

Altered expression pattern of circular RNAs in metastatic oral mucosal melanoma

Houyu Ju, Liming Zhang, Lu Mao, Shuli Liu, Weiya Xia, Jingzhou Hu, Min Ruan, Guoxin Ren

Am J Cancer Res. 2018; 8(9): 1788–1800. Published online 2018 Sep 1.

PMCID:: PMC6176177

Abstract Article PDF–2.0M

Select item 615882214.

CDX2 in colorectal cancer is an independent prognostic factor and regulated by promoter methylation and histone deacetylation in tumors of the serrated pathway

Janina Graule, Kristin Uth, Elia Fischer, Irene Centeno, José A. Galván, Micha Eichmann, Tilman T. Rau, Rupert Langer, Heather Dawson, Ulrich Nitsche, Peter Traeger, Martin D. Berger, Beat Schnüriger, Marion Hädrich, Peter Studer, Daniel Inderbitzin, Alessandro Lugli, Mario P. Tschan, Inti Zlobec

Clin Epigenetics. 2018; 10: 120. Published online 2018 Sep 26. doi: 10.1186/s13148-018-0548-2

PMCID:: PMC6158822

Abstract Article PDF–2.2M

Select item 597402015.

Genetic predictors of systemic sclerosis-associated interstitial lung disease: a review of recent literature

Carmel J. W. Stock, Elisabetta A. Renzoni

Eur J Hum Genet. 2018 Jun; 26(6): 765–777. Published online 2018 Feb 23. doi: 10.1038/s41431-018-0104-8

PMCID:: PMC5974020

Abstract Article PDF–531K

Select item 583192516.

High Percentage of Isomeric Human MicroRNA and Their Analytical Challenges

Joseph N. Mwangi, Norman H. L. Chiu

Noncoding RNA. 2016 Dec; 2(4): 13. Published online 2016 Dec 2. doi: 10.3390/ncrna2040013

PMCID:: PMC5831925

Abstract Article PDF–13M

Select item 560699717.

The non-canonical poly(A) polymerase FAM46C acts as an onco-suppressor in multiple myeloma

Seweryn Mroczek, Justyna Chlebowska, Tomasz M. Kuliński, Olga Gewartowska, Jakub Gruchota, Dominik Cysewski, Vladyslava Liudkovska, Ewa Borsuk, Dominika Nowis, Andrzej Dziembowski

Nat Commun. 2017; 8: 619. Published online 2017 Sep 20. doi: 10.1038/s41467-017-00578-5

PMCID:: PMC5606997

Abstract Article PDF–2.3M

Select item 509953318.

Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity

Bernarda Lozic, Stefan Johansson, Sanja Lovric Kojundzic, Josko Markic, Per Morten Knappskog, Angelika F. Hahn, Helge Boman

Ann Clin Transl Neurol. 2016 Nov; 3(11): 876–883. Published online 2016 Oct 11. doi: 10.1002/acn3.362

PMCID:: PMC5099533

Abstract Article PDF–1.8M

Select item 496722419.

Haplotype and diplotype analyses of variation in ERCC5 transcription cis-regulation in normal bronchial epithelial cells

Xiaolu Zhang, Erin L. Crawford, Thomas M. Blomquist, Sadik A. Khuder, Jiyoun Yeo, Albert M. Levin, James C. Willey

Physiol Genomics. 2016 Jul 1; 48(7): 537–543. Published online 2016 May 27. doi: 10.1152/physiolgenomics.00021.2016

PMCID:: PMC4967224

Abstract Article

Select item 489382520.

The Ensembl Variant Effect Predictor

William McLaren, Laurent Gil, Sarah E. Hunt, Harpreet Singh Riat, Graham R. S. Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham

Genome Biol. 2016; 17: 122. Published online 2016 Jun 6. doi: 10.1186/s13059-016-0974-4

PMCID:: PMC4893825

Abstract Article PDF–1.2M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 43

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity